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Coding polymorphisms in the genes of the alternative complement pathway and abdominal aortic aneurysm.

Abstract

Variants in the genes of the alternative complement pathway are associated with risk of numerous inflammatory diseases. Abdominal aortic aneurysm is associated with inflammation and is a common cause of illness and death among European populations. This study tested 49 single nucleotide polymorphisms, including common putatively functional polymorphisms, in the genes of the alternative complement cascade (CFH, CFB, CFD, CFI, properdin, CR1, CR1L, CR2, CD46, vitronectin, C3, C5, C6, C7, C8A, C8B, C8G and C9). The study group were 434 cases with infra-renal aortic diameter ≥30 mm and 378 disease-free controls from two UK centres, all with self-reported European ancestry. There was no evidence for significant association with presence or size of aneurysm following correction for multiple testing. This study suggests that variation in the genes of the alternative pathway is not an important cause of abdominal aortic aneurysm development.

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  • Authors

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    Source

    MeSH

    Aged
    Aged, 80 and over
    Alleles
    Aortic Aneurysm, Abdominal
    Case-Control Studies
    Complement Pathway, Alternative
    Female
    Genetic Predisposition to Disease
    Haplotypes
    Humans
    Male
    Middle Aged
    Polymorphism, Single Nucleotide

    Pub Type(s)

    Journal Article
    Research Support, Non-U.S. Gov't

    Language

    eng

    PubMed ID

    21352499